A Retrospective and Prospective Natural History of Genetic Vasculopathies
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Multisystemic Smooth Muscle Dysfunction Syndrome, ACTA2. Basic parameters: from 29 Days · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
This study will combine retrospective review of medical records from patients with ACTA2 and ongoing collection of clinical data using standardized instruments and intervals on an observational basis from patients with ACTA2. Patients in cohorts 1-3 will be asked to attend clinic visits in person per the schedule of events. At minimum, the medical records of patients with ACTA2 will be reviewed to record data on aspects of the disease, including disease characteristics and developmental milestones. The study is planned to enroll a total of 100 patients: 7 in cohort 1, 7 in cohort 2, and the remaining in cohorts 3 and 4. This study is planned to study patients for at least 3 years with the option to continue as long as possible for assessment of disease progression. During their continued study participation, as patients age, they may move into the next cohort. Beyond 3 years the duration of the study with be determined by availability of funding from sponsors.
Primary outcome measures
- Retrospectively define sequence and timing of vascular and non-vascular symptoms and disease progression [Time frame: 3 Years]
- Prospectively assess the rate of change of vascular and non-vascular disease in MSMDS using quantitative measures, patient/caregivers reported outcomes (PROs). [Time frame: 3 Years]
- Determine whether remote assessments with wearable technology systems are comparable with quantitative performance measures obtained in Aim 2 [Time frame: 3 Years]
Eligibility criteria
Inclusion criteria
- Confirmed ACTA2 pathogenic variant
- Available medical records since birth that permit documentation of disease characteristics and developmental milestone
- Have two parents and/or legal guardians who are English speaking and are able to read, understand, and sign the informed consent
- Able to tolerate travel to study site
Exclusion criteria
- Patient does not meet the inclusion criteria
- Patient is currently pregnant
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Massachusetts General Hospital — Boston
Identifiers
NCT: NCT06552052 · 2023P000821